And Inborn Error
Contents |
D008661 [edit on Wikidata] Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The majority are due to defects of single genes that code for enzymes inborn error of metabolism that facilitate conversion of various substances (substrates) into others (products). In most of inborn error of metabolism list the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to
Inborn Error Of Metabolism Diagnosis
the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases. The term inborn error of
Inborn Error Of Metabolism Review
metabolism was coined by a British physician, Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism was published in 1923.[1] Contents 1 Classification 2 Signs and symptoms 3 Diagnosis 4 Treatment 5 Epidemiology 6 References 7 External links inborn error of fatty acid metabolism Classification[edit] Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated. Following are some of the major classes of congenital metabolic diseases, with prominent examples of each class. Many others do not fall into these categories. Disorders of carbohydrate metabolism E.g., glycogen storage disease Disorders of amino acid metabolism E.g., phenylketonuria, maple syrup urine disease, glutaric acidemia type 1 Urea Cycle Disorder or Urea Cycle Defects E.g., Carbamoyl phosphate synthetase I deficiency Disorders of organic acid metabolism (organic acidurias) E.g., alcaptonuria, 2-hydroxyglutaric acidurias Disorders of fatty acid oxidation and mitochondrial metabolism E.g., Medium-chain acyl-coenzyme A dehydrogenase deficiency (often shortened to MCADD.) Disorders of porphyrin metabolism E.g., acute intermittent porphyria Disorders of purine or pyrimidine metabolism E.g., Lesch-Nyhan syndrome Disorders of steroid metabolism E.g., lipoid congenital adrenal hyperplasia, congenital adrenal hyperplasia Disorders of mitochondrial function E.g., Kearns-Sayre syndrome Disorders of peroxisomal function E.g., Zellweger syndrome Lysosomal storage disorders E.g., Gaucher's disease E.g., Niemann Pick disease Signs and symptoms[edit] Bec
Pediatrics in Review Journal CME Career Center AAP Policy Sections Login Submit Manuscript AAP Policy & Collections Alerts
Inborn Error Of Metabolism Examples
Subscribe aap.org Advertising Disclaimer » PediatricsDecember 1998, VOLUME 102 / inborn error of metabolism definition ISSUE 6 Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis Barbara K. Burton Article Figures inborn error of metabolism symptoms & Data Info & Metrics Comments Download PDF AbstractRecent advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for https://en.wikipedia.org/wiki/Inborn_error_of_metabolism many of these conditions. This makes it essential that the practicing pediatrician be familiar with the clinical presentation of these disorders. A practical clinical approach to the recognition of inborn errors of metabolism in the young infant is presented in this review. Indications for specific laboratory studies are discussed. Guidelines are provided for the http://pediatrics.aappublications.org/content/102/6/e69 stabilization and emergency treatment of critically ill infants. This approach will identify those infants who will benefit from additional evaluation and specific treatment.Many of the inborn errors of metabolism, including urea cycle defects, organic acidemias, and certain disorders of amino acid metabolism, present in the young infant with symptoms of an acute or chronic metabolic encephalopathy. Typical symptoms include lethargy, poor feeding, apnea or tachypnea, and recurrent vomiting. Metabolic acidosis and/or hyperammonemia are observed in many of these conditions, but there are notable exceptions, including nonketotic hyperglycinemia and molybdenum co-factor deficiency. Therefore, appropriate laboratory testing for metabolic disorders should be performed in any infant who exhibits these findings. Although sepsis may be the initial consideration in a neonate with these symptoms, inborn errors of metabolism should always be in the differential diagnosis, particularly in a full-term infant with no specific risk factors.Hypoglycemia may be the predominant finding in a number of inborn errors of metabolism, including glycogen storage disorders, defe
slideshowsWatch and learn about your health Symptom CheckerHelp diagnose common conditions MyHealthCheck and improve your health Clinical TrialsApply for a trial near you Decision AidsHelp choosing http://patient.info/doctor/inborn-errors-of-metabolism-an-introduction the right treatmentMedicines Search health information A B C D E F G H I http://www.aafp.org/afp/2006/0601/p1981.html J K L M N O P Q R S T U V W X Y ZProfessional Reference Search professional reference A B C D E F G H I J K L M N O P Q R S T U V W X Y ZBrowse clinical guidelines PatientPro CompleteCreate a reflective diary, track the pages you inborn error read and get ads free experience Medical Calculators Articles for medical students New leaflets and updates Decision AidsForumsDirectoryBlogsPatient Access Sign in RegisterWelcome to PatientRegisterPatient AccessPatient- MyHealth- Forums- PatientPro|Sign inPatient AccessPatient- MyHealth- Forums- PatientProMyHealth | Blogs | Shop | Symptom checker Search Patient Home Professional Reference Inborn Errors of Metabolism - an IntroductionInborn Errors of Metabolism - an Introduction 683 Users are discussing this topic Article Related Support Discuss Print PDF Email Bookmark Bookmarked Remove? inborn error of CancelYou must be signed in to bookmark pagesView All NotesCancelYou must be signed into your pro account to make notes Listen On this pageEpidemiologyPresentationClassificationManagementPreventionReferencesPatientPlus articles are written by UK doctors and are based on research evidence, UK and European Guidelines. They are designed for health professionals to use, so you may find the language more technical than the condition leaflets.683 See also: Glycogen Storage Disorders written for patientsInborn errors of metabolism (IEMs) comprise a group of disorders in which a single gene defect causes a clinically significant block in a metabolic pathway resulting in either accumulation of substrate behind the block or deficiency of the product.IEMs are defined by:Their clinical features.Specific enzyme affected.Their pattern of inheritance.EpidemiologyThe incidence is 40 cases/100,000 live births in a Canadian study.[1]A much higher incidence of 1 in 784 live births has been reported from the West Midlands in the UK.[2]This is attributed to the effect of ethnicity and consanguinity in the local population. Likewise a high incidence of 150 cases per 100,000 live births has been reported from Saudi Arabia.[3]NEW - log your activityAdd notes to any clinical page and create a reflective diaryAutomatically track and log every page you have viewedPrint and export a summary to use in your appraisalClick to find out more »Presentation[4]Most metabolic disorders present early in life although
in to get free access. All others: Purchase online access. FREE PREVIEW. Purchase online access to read the full version of this article. TALKAD S. RAGHUVEER, M.D., University of Kansas Medical Center, Kansas City, KansasUTTAM GARG, PH.D., and WILLIAM D. GRAF, M.D., Children's Mercy Hospitals and Clinics, Kansas City, MissouriAm Fam Physician. 2006 Jun 1;73(11):1981-1990. This article exemplifies the AAFP 2006 Annual Clinical Focus on caring for children and adolescents. Abstract Early Diagnosis and Screening in Asymptomatic InfantsEarly Diagnosis in Symptomatic InfantsConsiderations in Older Infants and ChildrenImportance of Early TreatmentLong-term TreatmentReferencesArticle Sections Abstract Early Diagnosis and Screening in Asymptomatic InfantsEarly Diagnosis in Symptomatic InfantsConsiderations in Older Infants and ChildrenImportance of Early TreatmentLong-term TreatmentReferencesRecent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians often are the first to be contacted by state and reference laboratories when neonatal screening detects the possibility of an inborn error of metabolism. Physicians must take immediate steps to evaluate the infant and should be able to access a regional metabolic disorder subspecialty center. Detailed knowledge of biochemical pathways is not necessary to treat patients during the initial evaluation. Nonspecific metabolic abnormalities (e.g., hypoglycemia, metabolic acidosis, hyperammonemia) must be treated urgently even if the specific underlying metabolic disorder is not yet known. Similarly, physicians still must recognize inborn errors of metabolism that are not detected reliably by tandem mass spectrometry and know when to pursue additional diagnostic testing. The early and specific diagnosis of inborn errors of metabolism and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients. The topic of inborn errors of metabolism is challenging for most physicians. The number of known metabolic disorders is probably as large as the number of prese